New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

European Journal of Human Genetics

Volumn 22, Issue 8, 2014, Pages 1002-1011

  Navarro, Claire Laure ^a   Esteves Vieira, Vera ^b   Courrier, Sébastien ^a   Boyer, Amandine ^b   Duong Nguyen, Thuy ^c,d   Huong, Le Thi Thanh ^c,e   Meinke, Peter ^c,l   Schröder, Winnie ^c   Cormier Daire, Valérie ^f   Sznajer, Yves ^g   Amor, David J ^h   Lagerstedt, Kristina ⁱ   Biervliet, Martine ^j   Van Den Akker, Peter C ^k   Cau, Pierre ^a,b   Roll, Patrice ^a,b   Lévy, Nicolas ^a,b   Badens, Catherine ^a,b   Wehnert, Manfred ^c   De Sandre Giovannoli, Annachiara ^a,b  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

^c UNIVERSITY OF GREIFSWALD   (Germany)

^d GRADUATE UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Viet Nam)

^e NATIONAL INSTITUTE OF HYGIENE AND EPIDEMIOLOGY   (Viet Nam)

^f INSERM   (France)

^g CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^j ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^k UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^l UNIVERSITY OF EDINBURGH   (United Kingdom)

more..

Author keywords

Mandibulo acral dysplasia; prelamin A maturation; progeroid syndromes; restrictive dermopathy; ZMPSTE24

Indexed keywords

LAMIN A; LAMIN C; THYMINE; MEMBRANE PROTEIN; METALLOPROTEINASE; RNA SPLICING; ZMPSTE24 PROTEIN, HUMAN;

ARTHROGRYPOSIS; ARTICLE; CHILD; CODON; CONTROLLED STUDY; DYSPLASIA; EXON; FOUNDER EFFECT; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; GENODERMATOSIS; HAPLOINSUFFICIENCY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INSULIN RESISTANCE; INTRON; JAW MALFORMATION; LIPODYSTROPHY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MANDIBULO ACRAL DYSPLASIA; MICROSATELLITE INSTABILITY; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREMATURE AGING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGEROID SYNDROME; PSYCHOMOTOR RETARDATION; RESTRICTIVE DERMOPATHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; SKIN FIBROBLAST; THYMINE GENE; WESTERN BLOTTING; WILD TYPE; ZMPSTE24 GENE; CLINICAL ARTICLE; FEMALE; GENETIC DISORDER; HOMOZYGOTE; MALE; ALLELE; AMINO ACID SUBSTITUTION; CONTRACTURE; DNA MUTATIONAL ANALYSIS; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION STUDY; GENETICS; MUTATION; PEDIGREE; PROGERIA; RNA SPLICING; SKIN ABNORMALITIES;

ALLELES; AMINO ACID SUBSTITUTION; CONTRACTURE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FETAL GROWTH RETARDATION; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MUTATION; PEDIGREE; PROGERIA; RNA SPLICE SITES; SKIN ABNORMALITIES;

EID: 84904643143     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.258     Document Type: Article

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